Hematology, Hospital Universitario de Salamanca-IBSAL, Salamanca, Spain.
Hematology, Hospital de la Ribera, Valencia, Spain.
Int J Lab Hematol. 2019 Feb;41(1):109-117. doi: 10.1111/ijlh.12933. Epub 2018 Oct 5.
Diagnosis of myelodysplastic syndromes (MDSs) when anemia is the only abnormality can be complicated. The aim of our study was to investigate the primary causes of anemia and/or macrocytosis of uncertain etiology.
We conducted a multicenter, prospective study over 4 months in three hematology laboratories. In step 1, we used an automated informatics system to screen 137 453 hemograms for cases of anemia and/or macrocytosis (n = 2702). In step 2, we excluded all patients whose anemia appeared to be due to a known cause. This left 290 patients had anemia of uncertain etiology. In step 3, we conducted further investigations, including a peripheral blood smear, and analysis of iron, vitamin B12, folate, and thyroid hormone levels.
A differential diagnosis was obtained in 139 patients (48%). The primary causes of anemia were iron deficiency (n = 59) and megaloblastic anemia (n = 39). In total, 25 hematologic disorders were diagnosed, including 14 patients with MDS (56%). The median age of MDS patients was 80 years, 12 had anemia as an isolated cytopenia, and most (n = 10) had lower-risk disease (IPSS-R ≤ 3.5). SF3B1 mutations were most frequent (n = 6) and correlated with the presence of ring sideroblasts (100%) and associated with better prognosis (P = 0.001).
Our prospective, four-step approach is an efficient and logical strategy to facilitate the diagnosis of MDS on the basis of unexplained anemia and/or macrocytosis, and may allow the early diagnosis of the most serious causes of anemia. Molecular analysis of genes related to MDS could be a promising diagnostic and prognostic approach.
当贫血是唯一异常时，骨髓增生异常综合征（MDSs）的诊断可能会很复杂。我们的研究目的是调查原因不明的贫血和/或巨幼细胞性贫血的主要病因。
我们在三个血液学实验室进行了为期 4 个月的多中心前瞻性研究。在步骤 1 中，我们使用自动化信息系统筛选了 137453 例贫血和/或巨幼细胞性（n=2702）患者的血液图像。在步骤 2 中，我们排除了所有贫血似乎是由已知原因引起的患者。这留下了 290 例病因不明的贫血患者。在步骤 3 中，我们进行了进一步的调查，包括外周血涂片检查以及铁、维生素 B12、叶酸和甲状腺激素水平分析。
在 139 例患者（48%）中获得了鉴别诊断。贫血的主要原因为缺铁（n=59）和巨幼细胞性贫血（n=39）。共诊断出 25 种血液学疾病，包括 14 例 MDS 患者（56%）。MDS 患者的中位年龄为 80 岁，12 例患者贫血为孤立性细胞减少症，大多数（n=10）为低危疾病（IPSS-R≤3.5）。SF3B1 突变最常见（n=6），与环形铁幼粒细胞（100%）的存在相关，并与较好的预后相关（P=0.001）。
我们的前瞻性四步方法是一种有效且合理的策略，可根据不明原因的贫血和/或巨幼细胞性贫血来促进 MDS 的诊断，并可能有助于早期诊断最严重的贫血原因。与 MDS 相关基因的分子分析可能是一种有前途的诊断和预后方法。
